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Spectrum of insulin-like growth factor deficiency.
- Source :
-
Endocrine development [Endocr Dev] 2012; Vol. 23, pp. 30-41. Date of Electronic Publication: 2012 Nov 23. - Publication Year :
- 2012
-
Abstract
- There are eight known genetic causes of short stature characterized by low serum IGF-1 (IGF-1 deficiency, IGFD) and normal GH secretion. One of these (GHSR defect) is a form of secondary IGFD, although the GH peak in provocation tests can be normal. Bioinactive GH (GH1 mutations) can disturb GH secretion, but also GH binding and signaling. The remaining conditions are classified as primary IGFD (GH insensitivity). The clinical phenotype of GH receptor (GHR) defects is variable. Of the three GH signal transduction defects, a STAT5B defect is well established, but abnormalities in the MAPK pathway (such as PTPN11 mutations in Noonan syndrome) and NF-ĸB pathway (IĸBα mutation) may also cause IGFD. Homozygous IGFALS defects are relatively common, and lead to moderate growth failure, very low serum IGF-1 and even lower IGFBP-3, while a heterozygous IGFALS mutation decreases height by 1 SD. Most cases with a homozygous IGF1 defect are very short, microcephalic, and deaf, but heterozygous mutations may also lead to short stature. IGFD can also have a digenic or oligogenic origin. The diagnostic yield of genetic testing in children with a height <-2.5 SDS and a serum IGF-1 <-2 appears sufficient to perform genetic tests for known candidate genes.<br /> (Copyright © 2012 S. Karger AG, Basel.)
- Subjects :
- Animals
Carrier Proteins genetics
Dwarfism, Pituitary diagnosis
Dwarfism, Pituitary genetics
Dwarfism, Pituitary therapy
Glycoproteins deficiency
Glycoproteins genetics
Growth Disorders diagnosis
Growth Disorders genetics
Growth Disorders therapy
Hormone Replacement Therapy
Human Growth Hormone deficiency
Human Growth Hormone genetics
Human Growth Hormone therapeutic use
Humans
Laron Syndrome diagnosis
Laron Syndrome genetics
Laron Syndrome therapy
Receptors, Ghrelin deficiency
Receptors, Ghrelin genetics
STAT5 Transcription Factor genetics
Somatomedins genetics
Growth Disorders classification
Somatomedins deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 1662-2979
- Volume :
- 23
- Database :
- MEDLINE
- Journal :
- Endocrine development
- Publication Type :
- Academic Journal
- Accession number :
- 23182818
- Full Text :
- https://doi.org/10.1159/000341739